Wilhelm, Sarah D. P.; Moresco, Angelica A.; Rivero, Alberto Daniel; Mok Siu, Victoria; Heinemann, Ilka U.
(Taylor & Francis, 2024-10-01)
Heterozygous pathogenic variants in the histidyl-tRNA synthetase (HARS) gene are associated with Charcot-Marie-Tooth (CMT) type 2W disease, classified as an axonal peripheral neuropathy. To date, at least 60 variants causing ...